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Septo-optic dysplasia with pachygyria

Bibliographic Details
Title: Septo-optic dysplasia with pachygyria
Authors: Abhay A Lune, Sonali A Lune
Source: Medical Journal of Dr. D.Y. Patil University, Vol 7, Iss 4, Pp 505-507 (2014)
Publisher Information: Wolters Kluwer Medknow Publications, 2014.
Publication Year: 2014
Collection: LCC:Medicine
Subject Terms: Optic nerve hypoplasia, pachygyria, pituitary hypoplasia, septo-optic dysplasia, septum pellucidum, Medicine
More Details: Optic nerve hypoplasia can be associated with other central nervous system malformations. When associated with the absence of the septum pellucidum or thinning of corpus callosum and pituitary hypoplasia, it is termed septo-optic dysplasia. Pachygyria is a rare congenital disorder characterized by a defect in migration of cerebral neurons resulting in failure of cortical gyri to develop.We report a case of a young learning-disabled male presenting with decreased vision, nystagmus, esotropia,, and seizures since childhood. Fundoscopy revealed bilateral optic nerve hypoplasia. Growth hormone levels were reduced. Magnetic resonance imaging revealed thinned optic nerves, optic chiasma and pituitary infundibulum, absent septum pellucidum, box-shaped ventricles and right frontal cortical thickening with few and broad gyri.This case report highlights a rare case of septo-optic dysplasia with pachygyria. It also emphasizes that every patient with optic nerve hypoplasia should have an endocrinal and neurological evaluation and neuro-radiographic imaging for associated abnormalities.
Document Type: article
File Description: electronic resource
Language: English
ISSN: 0975-2870
Relation: http://www.mjdrdypu.org/article.asp?issn=0975-2870;year=2014;volume=7;issue=4;spage=505;epage=507;aulast=Lune; https://doaj.org/toc/0975-2870
DOI: 10.4103/0975-2870.135288
Access URL: https://doaj.org/article/8ea8c620d6b242bfa86f4c4dfd110a58
Accession Number: edsdoj.8ea8c620d6b242bfa86f4c4dfd110a58
Database: Directory of Open Access Journals
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  Data: Medical Journal of Dr. D.Y. Patil University, Vol 7, Iss 4, Pp 505-507 (2014)
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  Data: <searchLink fieldCode="DE" term="%22Optic+nerve+hypoplasia%22">Optic nerve hypoplasia</searchLink><br /><searchLink fieldCode="DE" term="%22pachygyria%22">pachygyria</searchLink><br /><searchLink fieldCode="DE" term="%22pituitary+hypoplasia%22">pituitary hypoplasia</searchLink><br /><searchLink fieldCode="DE" term="%22septo-optic+dysplasia%22">septo-optic dysplasia</searchLink><br /><searchLink fieldCode="DE" term="%22septum+pellucidum%22">septum pellucidum</searchLink><br /><searchLink fieldCode="DE" term="%22Medicine%22">Medicine</searchLink>
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  Data: Optic nerve hypoplasia can be associated with other central nervous system malformations. When associated with the absence of the septum pellucidum or thinning of corpus callosum and pituitary hypoplasia, it is termed septo-optic dysplasia. Pachygyria is a rare congenital disorder characterized by a defect in migration of cerebral neurons resulting in failure of cortical gyri to develop.We report a case of a young learning-disabled male presenting with decreased vision, nystagmus, esotropia,, and seizures since childhood. Fundoscopy revealed bilateral optic nerve hypoplasia. Growth hormone levels were reduced. Magnetic resonance imaging revealed thinned optic nerves, optic chiasma and pituitary infundibulum, absent septum pellucidum, box-shaped ventricles and right frontal cortical thickening with few and broad gyri.This case report highlights a rare case of septo-optic dysplasia with pachygyria. It also emphasizes that every patient with optic nerve hypoplasia should have an endocrinal and neurological evaluation and neuro-radiographic imaging for associated abnormalities.
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        PageCount: 3
        StartPage: 505
    Subjects:
      – SubjectFull: Optic nerve hypoplasia
        Type: general
      – SubjectFull: pachygyria
        Type: general
      – SubjectFull: pituitary hypoplasia
        Type: general
      – SubjectFull: septo-optic dysplasia
        Type: general
      – SubjectFull: septum pellucidum
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            NameFull: Abhay A Lune
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